ClinVar for Gene (Select 25818) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2595156	NM_012427.5(KLK5):c.803G>A (p.Arg268Gln)	KLK5 (R268Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514124	NM_012427.5(KLK5):c.665C>T (p.Pro222Leu)	KLK5 (P222L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495800	NM_012427.5(KLK5):c.48C>G (p.Ile16Met)	KLK5 (I16M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402243	NM_012427.5(KLK5):c.814C>T (p.Pro272Ser)	KLK5 (P272S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378427	NM_012427.5(KLK5):c.409G>T (p.Val137Phe)	KLK5 (V137F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372626	NM_012427.5(KLK5):c.445G>A (p.Gly149Ser)	KLK5 (G149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356852	NM_012427.5(KLK5):c.491G>A (p.Arg164His)	KLK5 (R164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2355886	NM_012427.5(KLK5):c.16C>T (p.Pro6Ser)	KLK5 (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340174	NM_012427.5(KLK5):c.799G>T (p.Ala267Ser)	KLK5 (A267S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332253	NM_012427.5(KLK5):c.668G>A (p.Arg223Lys)	KLK5 (R223K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300450	NM_012427.5(KLK5):c.293T>C (p.Val98Ala)	KLK5 (V98A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286489	NM_012427.5(KLK5):c.161C>T (p.Ala54Val)	KLK5 (A54V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271129	NM_012427.5(KLK5):c.35T>C (p.Leu12Pro)	KLK5 (L12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268250	NM_012427.5(KLK5):c.664C>T (p.Pro222Ser)	KLK5 (P222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210201	NM_012427.5(KLK5):c.214G>A (p.Asp72Asn)	KLK5 (D72N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 30